A novel kindred with inherited STAT2 deficiency and severe viral illness
L Moens, L Van Eyck, D Jochmans, T Mitera… - Journal of Allergy and …, 2017 - jacionline.org
To the Editor: Autosomal recessive signal transducer and activator of transcription 2 (STAT2)
deficiency was first reported in 2 siblings. One developed disseminated vaccine-strain
measles following routine immunization with measles-mumps-rubella but recovered. The
younger sibling died in infancy from a probable viral infection. 1 Pedigree analysis showed
incomplete clinical penetrance for the severe viral infection phenotype in this kindred, giving
rise to questions regarding the completeness of the STAT2 defect. Two other siblings with …
deficiency was first reported in 2 siblings. One developed disseminated vaccine-strain
measles following routine immunization with measles-mumps-rubella but recovered. The
younger sibling died in infancy from a probable viral infection. 1 Pedigree analysis showed
incomplete clinical penetrance for the severe viral infection phenotype in this kindred, giving
rise to questions regarding the completeness of the STAT2 defect. Two other siblings with …